KMT2B-related disorders: Expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Objective: Clarifying clinical phenotype, molecular genetic features and evolution with deep brain stimulation (DBS) of KMT2B related disease. Background: Heterozygous mutations in KMT2B are associated…Fatigue in patients with focal and segmental dystonia
Objective: To determine relation of fatigue to depression, anxyety and sleep disorder in patients with focal and segmental dystonia. Background: Dystonia is movement disorder characterised…Interrater Agreement for Movement Disorder Classification in Children with Mixed Movement Disorders
Objective: To determine interrater agreement on the classification component of the Movement Disorders-Childhood Rating Scale (MD-CRS). Background: The MD-CRS consists of three parts: classification, general assessment, and…Idiopathic Upper Limb Dystonia – Time for a better understanding
Objective: This cross-sectional study examined the clinical and demographic features of idiopathic adult-onset upper limb dystonia (ULD) related to onset site, spread, and task-specificity in…Pantothenate kinase associated neurodegeneration: A familial case report of two sisters with severe dystonia
Objective: To report a familial case of severe dystonia associated with Pantothenate kinase associated neurodegeneration (PKAN). Background: Pantothenate kinase associated neurodegeneration (PKAN) is named previously…Improved Severe Complex Idiopathic Adult Onset Truncal Dystonia with Axial Twisting by Bilateral Pallidal Stimulation: Case Report
Objective: We describe marked improvement of severe and complex adult onset idiopathic truncal dystonia, highlighting the challenging programing to achieve the best outcome. Background: Few case…Phenotypic variability and extreme age of presentation of GCH1 gene mutation in dopa-responsive dystonia
Objective: To highlight the wide phenotypical variability among GCH1 gene mutation carriers and the importance of molecular work-up and establishing genotype-phenotype correlations in GCH1 related…Clinical and genetic characteristics of a new mutation causing Segawa´s disease in a Spanish kindred
Objective: To describe the clinical phenotype and genetic characteristics of a novel mutation causing Segawa´s disease in a Spanish family. Background: Dopa-Responsive Dystonia (DRD) is…Health-related quality of life in cervical dystonia; the hidden and unaddressed effect of anxiety
Objective: The aim of this study was to assess health-related quality of life in patients with cervical dystonia and assess factors considered to contribute to…Biallelic ZNF142-null mutations in patients with early-onset generalized dystonia
Objective: To identify a novel genetic factor contributing to the phenotypic expression of early-onset generalized dystonia. Background: To date, only about 20-30% of cases with…
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